Faculty Opinions recommendation of Association between paracetamol use in infancy and childhood, and risk of asthma, rhinoconjunctivitis, and eczema in children aged 6-7 years: analysis from Phase Three of the ISAAC programme.

Author(s):  
Paul Seddon
Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.


2021 ◽  
Author(s):  
Sander Lamballais ◽  
Philip R. Jansen ◽  
Jeremy A. Labrecque ◽  
M. Arfan Ikram ◽  
Tonya White

1991 ◽  
Vol 59 (4) ◽  
pp. 705-732 ◽  
Author(s):  
Robert Plomin ◽  
Hilary Coon ◽  
Gregory Carey ◽  
J. C. DeFries ◽  
David W. Fulker

1917 ◽  
Vol 66 (5) ◽  
pp. 557-559 ◽  
Author(s):  
DANIEL N. EISENDRATH

2008 ◽  
Vol 55 (2) ◽  
pp. 397-404 ◽  
Author(s):  
Ken-ichi KASHIMADA ◽  
Makoto ONO ◽  
Toshikazu ONISHI ◽  
Satimi KOYAMA ◽  
Takio TOYOURA ◽  
...  

1965 ◽  
Vol 43 (3) ◽  
pp. 276.2-277
Author(s):  
Edith L. Potter

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